Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH

We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75 Kb oligo's were normal, excluding Wolf–Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age.